rs398123035

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs398123035(A;G)

Make rs398123035(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

6361944

Gene	ACER1, CLPP

is a	snp
is	mentioned by
dbSNP	rs398123035
dbSNP (classic)	rs398123035
ClinGen	rs398123035
ebi	rs398123035
HLI	rs398123035
Exac	rs398123035
Gnomad	rs398123035
Varsome	rs398123035
LitVar	rs398123035
Map	rs398123035
PheGenI	rs398123035
Biobank	rs398123035
1000 genomes	rs398123035
hgdp	rs398123035
ensembl	rs398123035
geneview	rs398123035
scholar	rs398123035
google	rs398123035
pharmgkb	rs398123035
gwascentral	rs398123035
openSNP	rs398123035
23andMe	rs398123035
SNPshot	rs398123035
SNPdbe	rs398123035
MSV3d	rs398123035
GWAS Ctlg	rs398123035

Max Magnitude

0

ClinVar
Risk	rs398123035(G;G)
Alt	rs398123035(G;G)
Reference	Rs398123035(A;A)
Significance	Pathogenic
Disease	Perrault syndrome 3 Autosomal recessive hearing impairment with normal menstrual cycles
Variation	info
Gene	CLPP
CLNDBN	Perrault syndrome 3 Autosomal recessive hearing impairment with normal menstrual cycles
Reversed	0
HGVS	NC_000019.9:g.6361955A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000049284.2, RCV000201253.1,